Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.128485200_128487231del | CA358451 | GATA2 | c.-45-155_871+527del c.238-155_1153+527del | ClinVar |
3 | g.128485206_128487871del | CA916081440 | GATA2 | c.-200_871+527del c.83_1153+527del c.-45-789_871+527del | |
3 | g.128486107G>A | CA83371977 | GATA2 | c.491C>T (p.Ala164Val) c.773C>T (p.Ala258Val) | ClinVar dbSNP gnomAD v4 |
3 | g.128486107G>C | CA83371979 | GATA2 | c.491C>G (p.Ala164Gly) c.773C>G (p.Ala258Gly) | dbSNP |
3 | g.128486107G= | CA1400719396 | GATA2 | c.491C= (p.Ala164=) c.773C= (p.Ala258=) | |
3 | g.128486107G>T | CA83371982 | GATA2 | c.491C>A (p.Ala164Asp) c.773C>A (p.Ala258Asp) | dbSNP gnomAD v4 |
3 | g.128486108C>A | CA354406655 | GATA2 | c.490G>T (p.Ala164Ser) c.772G>T (p.Ala258Ser) | |
3 | g.128486108C= | CA1400719397 | GATA2 | c.490G= (p.Ala164=) c.772G= (p.Ala258=) | |
3 | g.128486108C>G | CA354406654 | GATA2 | c.490G>C (p.Ala164Pro) c.772G>C (p.Ala258Pro) | dbSNP |
3 | g.128486108C>T | CA159904 | GATA2 | c.490G>A (p.Ala164Thr) c.772G>A (p.Ala258Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486109T>A | CA435763788 | GATA2 | c.489A>T (p.Ala163=) c.771A>T (p.Ala257=) | |
3 | g.128486109T>C | CA435763789 | GATA2 | c.489A>G (p.Ala163=) c.771A>G (p.Ala257=) | ClinVar gnomAD v4 |
3 | g.128486109T>G | CA435763790 | GATA2 | c.489A>C (p.Ala163=) c.771A>C (p.Ala257=) | |
3 | g.128486110G>A | CA354406656 | GATA2 | c.488C>T (p.Ala163Val) c.770C>T (p.Ala257Val) | |
3 | g.128486110G>C | CA354406657 | GATA2 | c.488C>G (p.Ala163Gly) c.770C>G (p.Ala257Gly) | |
3 | g.128486110G>T | CA354406658 | GATA2 | c.488C>A (p.Ala163Glu) c.770C>A (p.Ala257Glu) | |
3 | g.128486111C>A | CA354406659 | GATA2 | c.487G>T (p.Ala163Ser) c.769G>T (p.Ala257Ser) | |
3 | g.128486111C= | CA1400719398 | GATA2 | c.487G= (p.Ala163=) c.769G= (p.Ala257=) | |
3 | g.128486111C>G | CA354406660 | GATA2 | c.487G>C (p.Ala163Pro) c.769G>C (p.Ala257Pro) | |
3 | g.128486111C>T | CA83371986 | GATA2 | c.487G>A (p.Ala163Thr) c.769G>A (p.Ala257Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486112T>A | CA435763798 | GATA2 | c.486A>T (p.Thr162=) c.768A>T (p.Thr256=) | gnomAD v4 |
3 | g.128486112T>C | CA435763800 | GATA2 | c.486A>G (p.Thr162=) c.768A>G (p.Thr256=) | |
3 | g.128486112T>G | CA435763801 | GATA2 | c.486A>C (p.Thr162=) c.768A>C (p.Thr256=) | |
3 | g.128486113G>A | CA354406661 | GATA2 | c.485C>T (p.Thr162Ile) c.767C>T (p.Thr256Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.128486113G>C | CA354406662 | GATA2 | c.485C>G (p.Thr162Arg) c.767C>G (p.Thr256Arg) | |
3 | g.128486113G= | CA1400719399 | GATA2 | c.485C= (p.Thr162=) c.767C= (p.Thr256=) | |
3 | g.128486113G>T | CA354406663 | GATA2 | c.485C>A (p.Thr162Lys) c.767C>A (p.Thr256Lys) | |
3 | g.128486114T>A | CA354406664 | GATA2 | c.484A>T (p.Thr162Ser) c.766A>T (p.Thr256Ser) | |
3 | g.128486114T>C | CA354406665 | GATA2 | c.484A>G (p.Thr162Ala) c.766A>G (p.Thr256Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.128486114T>G | CA2600019 | GATA2 | c.484A>C (p.Thr162Pro) c.766A>C (p.Thr256Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486114T= | CA1400719400 | GATA2 | c.484A= (p.Thr162=) c.766A= (p.Thr256=) | |
3 | g.128486115A= | CA1400719401 | GATA2 | c.483T= (p.Pro161=) c.765T= (p.Pro255=) | |
3 | g.128486115A>C | CA435763806 | GATA2 | c.483T>G (p.Pro161=) c.765T>G (p.Pro255=) | |
3 | g.128486115A>G | CA435763809 | GATA2 | c.483T>C (p.Pro161=) c.765T>C (p.Pro255=) | dbSNP gnomAD v4 |
3 | g.128486115A>T | CA435763811 | GATA2 | c.483T>A (p.Pro161=) c.765T>A (p.Pro255=) | |
3 | g.128486115_128486116dup | CA2838031888 | GATA2 | c.482_483dup (p.Thr162LeufsTer?) c.764_765dup (p.Thr256LeufsTer?) | |
3 | g.128486116G>A | CA354406667 | GATA2 | c.482C>T (p.Pro161Leu) c.764C>T (p.Pro255Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486116G>C | CA354406668 | GATA2 | c.482C>G (p.Pro161Arg) c.764C>G (p.Pro255Arg) | |
3 | g.128486116G= | CA1400719402 | GATA2 | c.482C= (p.Pro161=) c.764C= (p.Pro255=) | |
3 | g.128486116G>T | CA354406666 | GATA2 | c.482C>A (p.Pro161His) c.764C>A (p.Pro255His) | gnomAD v4 |
3 | g.128486117G>A | CA354406669 | GATA2 | c.481C>T (p.Pro161Ser) c.763C>T (p.Pro255Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486117G>C | CA159894 | GATA2 | c.481C>G (p.Pro161Ala) c.763C>G (p.Pro255Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486117G= | CA1400719403 | GATA2 | c.481C= (p.Pro161=) c.763C= (p.Pro255=) | |
3 | g.128486117G>T | CA2600020 | GATA2 | c.481C>A (p.Pro161Thr) c.763C>A (p.Pro255Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486118G>A | CA2600021 | GATA2 | c.480C>T (p.Thr160=) c.762C>T (p.Thr254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486118G>C | CA435763814 | GATA2 | c.480C>G (p.Thr160=) c.762C>G (p.Thr254=) | |
3 | g.128486118G= | CA1400719404 | GATA2 | c.480C= (p.Thr160=) c.762C= (p.Thr254=) | |
3 | g.128486118G>T | CA435763815 | GATA2 | c.480C>A (p.Thr160=) c.762C>A (p.Thr254=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486119G>A | CA354406670 | GATA2 | c.479C>T (p.Thr160Ile) c.761C>T (p.Thr254Ile) | |
3 | g.128486119G>C | CA354406671 | GATA2 | c.479C>G (p.Thr160Ser) c.761C>G (p.Thr254Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.128486119G= | CA1400719405 | GATA2 | c.479C= (p.Thr160=) c.761C= (p.Thr254=) | |
3 | g.128486119G>T | CA2600022 | GATA2 | c.479C>A (p.Thr160Asn) c.761C>A (p.Thr254Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486120_128486123dup | CA2499216466 | GATA2 | c.476_479dup (p.Pro161HisfsTer25) c.758_761dup (p.Pro255HisfsTer25) | ClinVar dbSNP |
3 | g.128486120T>A | CA354406672 | GATA2 | c.478A>T (p.Thr160Ser) c.760A>T (p.Thr254Ser) | ClinVar |
3 | g.128486120T>C | CA354406674 | GATA2 | c.478A>G (p.Thr160Ala) c.760A>G (p.Thr254Ala) | |
3 | g.128486120T>G | CA354406673 | GATA2 | c.478A>C (p.Thr160Pro) c.760A>C (p.Thr254Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486120T= | CA1400719406 | GATA2 | c.478A= (p.Thr160=) c.760A= (p.Thr254=) | |
3 | g.128486121G>A | CA2600023 | GATA2 | c.477C>T (p.Leu159=) c.759C>T (p.Leu253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486121G>C | CA435763822 | GATA2 | c.477C>G (p.Leu159=) c.759C>G (p.Leu253=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486121G= | CA1400719407 | GATA2 | c.477C= (p.Leu159=) c.759C= (p.Leu253=) | |
3 | g.128486121G>T | CA435763823 | GATA2 | c.477C>A (p.Leu159=) c.759C>A (p.Leu253=) | |
3 | g.128486122A>C | CA354406675 | GATA2 | c.476T>G (p.Leu159Arg) c.758T>G (p.Leu253Arg) | |
3 | g.128486122A>G | CA354406676 | GATA2 | c.476T>C (p.Leu159Pro) c.758T>C (p.Leu253Pro) | |
3 | g.128486122A>T | CA354406677 | GATA2 | c.476T>A (p.Leu159His) c.758T>A (p.Leu253His) | |
3 | g.128486123G>A | CA354406678 | GATA2 | c.475C>T (p.Leu159Phe) c.757C>T (p.Leu253Phe) | gnomAD v4 |
3 | g.128486123G>C | CA354406680 | GATA2 | c.475C>G (p.Leu159Val) c.757C>G (p.Leu253Val) | |
3 | g.128486123G>T | CA354406679 | GATA2 | c.475C>A (p.Leu159Ile) c.757C>A (p.Leu253Ile) | |
3 | g.128486124G>A | CA435763827 | GATA2 | c.474C>T (p.Ser158=) c.756C>T (p.Ser252=) | ClinVar dbSNP |
3 | g.128486124G>C | CA435763828 | GATA2 | c.474C>G (p.Ser158=) c.756C>G (p.Ser252=) | |
3 | g.128486124G>T | CA435763829 | GATA2 | c.474C>A (p.Ser158=) c.756C>A (p.Ser252=) | |
3 | g.128486125G>A | CA354406681 | GATA2 | c.473C>T (p.Ser158Phe) c.755C>T (p.Ser252Phe) | |
3 | g.128486125G>C | CA354406682 | GATA2 | c.473C>G (p.Ser158Cys) c.755C>G (p.Ser252Cys) | |
3 | g.128486125G>T | CA354406683 | GATA2 | c.473C>A (p.Ser158Tyr) c.755C>A (p.Ser252Tyr) | |
3 | g.128486126A= | CA1400719408 | GATA2 | c.472T= (p.Ser158=) c.754T= (p.Ser252=) | |
3 | g.128486126A>C | CA354406684 | GATA2 | c.472T>G (p.Ser158Ala) c.754T>G (p.Ser252Ala) | |
3 | g.128486126A>G | CA354406685 | GATA2 | c.472T>C (p.Ser158Pro) c.754T>C (p.Ser252Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486126A>T | CA354406686 | GATA2 | c.472T>A (p.Ser158Thr) c.754T>A (p.Ser252Thr) | |
3 | g.128486127G>A | CA435763834 | GATA2 | c.471C>T (p.Ala157=) c.753C>T (p.Ala251=) | ClinVar dbSNP gnomAD v4 |
3 | g.128486127G>C | CA435763835 | GATA2 | c.471C>G (p.Ala157=) c.753C>G (p.Ala251=) | |
3 | g.128486127G>T | CA435763836 | GATA2 | c.471C>A (p.Ala157=) c.753C>A (p.Ala251=) | |
3 | g.128486128G>A | CA354406687 | GATA2 | c.470C>T (p.Ala157Val) c.752C>T (p.Ala251Val) | gnomAD v4 |
3 | g.128486128G>C | CA354406688 | GATA2 | c.470C>G (p.Ala157Gly) c.752C>G (p.Ala251Gly) | ClinVar |
3 | g.128486128G= | CA1400719409 | GATA2 | c.470C= (p.Ala157=) c.752C= (p.Ala251=) | |
3 | g.128486128G>T | CA83372012 | GATA2 | c.470C>A (p.Ala157Asp) c.752C>A (p.Ala251Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486129C>A | CA354406689 | GATA2 | c.469G>T (p.Ala157Ser) c.751G>T (p.Ala251Ser) | ClinVar dbSNP |
3 | g.128486129C= | CA1400719410 | GATA2 | c.469G= (p.Ala157=) c.751G= (p.Ala251=) | |
3 | g.128486129C>G | CA354406690 | GATA2 | c.469G>C (p.Ala157Pro) c.751G>C (p.Ala251Pro) | |
3 | g.128486129C>T | CA354406691 | GATA2 | c.469G>A (p.Ala157Thr) c.751G>A (p.Ala251Thr) | gnomAD v4 |
3 | g.128486130C>A | CA435763843 | GATA2 | c.468G>T (p.Val156=) c.750G>T (p.Val250=) | |
3 | g.128486130C= | CA1400719411 | GATA2 | c.468G= (p.Val156=) c.750G= (p.Val250=) | |
3 | g.128486130C>G | CA435763844 | GATA2 | c.468G>C (p.Val156=) c.750G>C (p.Val250=) | |
3 | g.128486130C>T | CA435763845 | GATA2 | c.468G>A (p.Val156=) c.750G>A (p.Val250=) | ClinVar dbSNP |
3 | g.128486131_128486139del | CA2667541072 | GATA2 | c.460_468del (p.Ser154_Val156del) c.742_750del (p.Ser248_Val250del) | gnomAD v4 |
3 | g.128486131A>C | CA354406692 | GATA2 | c.467T>G (p.Val156Gly) c.749T>G (p.Val250Gly) | |
3 | g.128486131A>G | CA354406694 | GATA2 | c.467T>C (p.Val156Ala) c.749T>C (p.Val250Ala) | |
3 | g.128486131A>T | CA354406693 | GATA2 | c.467T>A (p.Val156Glu) c.749T>A (p.Val250Glu) | ClinVar dbSNP |
3 | g.128486132C>A | CA354406695 | GATA2 | c.466G>T (p.Val156Leu) c.748G>T (p.Val250Leu) | COSMIC |
3 | g.128486132C= | CA1400719412 | GATA2 | c.466G= (p.Val156=) c.748G= (p.Val250=) | |
3 | g.128486132C>G | CA354406697 | GATA2 | c.466G>C (p.Val156Leu) c.748G>C (p.Val250Leu) | ClinVar dbSNP |
3 | g.128486132C>T | CA354406696 | GATA2 | c.466G>A (p.Val156Met) c.748G>A (p.Val250Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486133T>A | CA435763852 | GATA2 | c.465A>T (p.Ser155=) c.747A>T (p.Ser249=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486133T>C | CA83372017 | GATA2 | c.465A>G (p.Ser155=) c.747A>G (p.Ser249=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486133T>G | CA435763854 | GATA2 | c.465A>C (p.Ser155=) c.747A>C (p.Ser249=) | |
3 | g.128486133T= | CA1400719413 | GATA2 | c.465A= (p.Ser155=) c.747A= (p.Ser249=) | |
3 | g.128486134G>A | CA354406698 | GATA2 | c.464C>T (p.Ser155Leu) c.746C>T (p.Ser249Leu) | |
3 | g.128486134G>C | CA354406700 | GATA2 | c.464C>G (p.Ser155Ter) c.746C>G (p.Ser249Ter) | |
3 | g.128486134G>T | CA354406699 | GATA2 | c.464C>A (p.Ser155Ter) c.746C>A (p.Ser249Ter) | |
3 | g.128486134_128486142del | CA2758339422 | GATA2 | c.456_464del (p.Ser152_Ser155delinsArg) c.738_746del (p.Ser246_Ser249delinsArg) | |
3 | g.128486135A>C | CA354406701 | GATA2 | c.463T>G (p.Ser155Ala) c.745T>G (p.Ser249Ala) | |
3 | g.128486135A>G | CA354406702 | GATA2 | c.463T>C (p.Ser155Pro) c.745T>C (p.Ser249Pro) | ClinVar |
3 | g.128486135A>T | CA354406703 | GATA2 | c.463T>A (p.Ser155Thr) c.745T>A (p.Ser249Thr) | |
3 | g.128486136G>A | CA435763860 | GATA2 | c.462C>T (p.Ser154=) c.744C>T (p.Ser248=) | ClinVar dbSNP |
3 | g.128486136G>C | CA354406704 | GATA2 | c.462C>G (p.Ser154Arg) c.744C>G (p.Ser248Arg) | |
3 | g.128486136G>T | CA354406705 | GATA2 | c.462C>A (p.Ser154Arg) c.744C>A (p.Ser248Arg) | |
3 | g.128486137C>A | CA354406706 | GATA2 | c.461G>T (p.Ser154Ile) c.743G>T (p.Ser248Ile) | |
3 | g.128486137C>G | CA354406707 | GATA2 | c.461G>C (p.Ser154Thr) c.743G>C (p.Ser248Thr) | gnomAD v4 |
3 | g.128486137C>T | CA354406708 | GATA2 | c.461G>A (p.Ser154Asn) c.743G>A (p.Ser248Asn) | |
3 | g.128486138T>A | CA354406709 | GATA2 | c.460A>T (p.Ser154Cys) c.742A>T (p.Ser248Cys) | |
3 | g.128486138T>C | CA354406710 | GATA2 | c.460A>G (p.Ser154Gly) c.742A>G (p.Ser248Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486138T>G | CA354406711 | GATA2 | c.460A>C (p.Ser154Arg) c.742A>C (p.Ser248Arg) | |
3 | g.128486138T= | CA1400719414 | GATA2 | c.460A= (p.Ser154=) c.742A= (p.Ser248=) | |
3 | g.128486139C>A | CA435763867 | GATA2 | c.459G>T (p.Gly153=) c.741G>T (p.Gly247=) | |
3 | g.128486139C>G | CA435763869 | GATA2 | c.459G>C (p.Gly153=) c.741G>C (p.Gly247=) | |
3 | g.128486139C>T | CA435763870 | GATA2 | c.459G>A (p.Gly153=) c.741G>A (p.Gly247=) | ClinVar dbSNP |
3 | g.128486140C>A | CA354406714 | GATA2 | c.458G>T (p.Gly153Val) c.740G>T (p.Gly247Val) | |
3 | g.128486140C>G | CA354406713 | GATA2 | c.458G>C (p.Gly153Ala) c.740G>C (p.Gly247Ala) | |
3 | g.128486140C>T | CA354406712 | GATA2 | c.458G>A (p.Gly153Glu) c.740G>A (p.Gly247Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.128486141C>A | CA354406715 | GATA2 | c.457G>T (p.Gly153Trp) c.739G>T (p.Gly247Trp) | |
3 | g.128486141C= | CA1400719415 | GATA2 | c.457G= (p.Gly153=) c.739G= (p.Gly247=) | |
3 | g.128486141C>G | CA354406716 | GATA2 | c.457G>C (p.Gly153Arg) c.739G>C (p.Gly247Arg) | |
3 | g.128486141C>T | CA2600024 | GATA2 | c.457G>A (p.Gly153Arg) c.739G>A (p.Gly247Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486142G>A | CA435763872 | GATA2 | c.456C>T (p.Ser152=) c.738C>T (p.Ser246=) | gnomAD v4 |
3 | g.128486142G>C | CA354406717 | GATA2 | c.456C>G (p.Ser152Arg) c.738C>G (p.Ser246Arg) | ClinVar dbSNP |
3 | g.128486142G= | CA1400719416 | GATA2 | c.456C= (p.Ser152=) c.738C= (p.Ser246=) | |
3 | g.128486142G>T | CA2600025 | GATA2 | c.456C>A (p.Ser152Arg) c.738C>A (p.Ser246Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486143C>A | CA354406718 | GATA2 | c.455G>T (p.Ser152Ile) c.737G>T (p.Ser246Ile) | |
3 | g.128486143C= | CA1400719417 | GATA2 | c.455G= (p.Ser152=) c.737G= (p.Ser246=) | |
3 | g.128486143C>G | CA354406719 | GATA2 | c.455G>C (p.Ser152Thr) c.737G>C (p.Ser246Thr) | |
3 | g.128486143C>T | CA354406720 | GATA2 | c.455G>A (p.Ser152Asn) c.737G>A (p.Ser246Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.128486144T>A | CA354406721 | GATA2 | c.454A>T (p.Ser152Cys) c.736A>T (p.Ser246Cys) | |
3 | g.128486144T>C | CA354406722 | GATA2 | c.454A>G (p.Ser152Gly) c.736A>G (p.Ser246Gly) | |
3 | g.128486144T>G | CA354406723 | GATA2 | c.454A>C (p.Ser152Arg) c.736A>C (p.Ser246Arg) | |
3 | g.128486145G>A | CA435763881 | GATA2 | c.453C>T (p.Gly151=) c.735C>T (p.Gly245=) | gnomAD v4 |
3 | g.128486145G>C | CA435763882 | GATA2 | c.453C>G (p.Gly151=) c.735C>G (p.Gly245=) | |
3 | g.128486145G>T | CA435763883 | GATA2 | c.453C>A (p.Gly151=) c.735C>A (p.Gly245=) | |
3 | g.128486146C>A | CA354406725 | GATA2 | c.452G>T (p.Gly151Val) c.734G>T (p.Gly245Val) | gnomAD v4 |
3 | g.128486146C= | CA1400719418 | GATA2 | c.452G= (p.Gly151=) c.734G= (p.Gly245=) | |
3 | g.128486146C>G | CA354406724 | GATA2 | c.452G>C (p.Gly151Ala) c.734G>C (p.Gly245Ala) | |
3 | g.128486146C>T | CA2600026 | GATA2 | c.452G>A (p.Gly151Asp) c.734G>A (p.Gly245Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486147C>A | CA354406726 | GATA2 | c.451G>T (p.Gly151Cys) c.733G>T (p.Gly245Cys) | |
3 | g.128486147C= | CA1400719420 | GATA2 | c.451G= (p.Gly151=) c.733G= (p.Gly245=) | |
3 | g.128486147C>G | CA354406727 | GATA2 | c.451G>C (p.Gly151Arg) c.733G>C (p.Gly245Arg) | |
3 | g.128486147C>T | CA354406728 | GATA2 | c.451G>A (p.Gly151Ser) c.733G>A (p.Gly245Ser) | |
3 | g.128486147_128486148delinsCT | CA1400719419 | GATA2 | c.450_451delinsAG (p.Gly150=) c.732_733delinsAG (p.Gly244=) | |
3 | g.128486148del | CA917003465 | GATA2 | c.450del (p.Gly151AlafsTer?) c.732del (p.Gly245AlafsTer?) c.450del (p.Gly150=) | dbSNP |
3 | g.128486148T>A | CA435763885 | GATA2 | c.450A>T (p.Gly150=) c.732A>T (p.Gly244=) | |
3 | g.128486148T>C | CA2600027 | GATA2 | c.450A>G (p.Gly150=) c.732A>G (p.Gly244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486148T>G | CA435763886 | GATA2 | c.450A>C (p.Gly150=) c.732A>C (p.Gly244=) | |
3 | g.128486148T= | CA1400719421 | GATA2 | c.450A= (p.Gly150=) c.732A= (p.Gly244=) | |
3 | g.128486148dup | CA917003467 | GATA2 | c.450dup (p.Gly151ArgfsTer?) c.732dup (p.Gly245ArgfsTer?) | dbSNP |
3 | g.128486148_128486149insAC | CA2838031897 | GATA2 | c.449_450insGT (p.Gly151Ter) c.731_732insGT (p.Gly245Ter) c.449_450insGT (p.Gly150=) | |
3 | g.128486149C>A | CA354406729 | GATA2 | c.449G>T (p.Gly150Val) c.731G>T (p.Gly244Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486149C= | CA1400719422 | GATA2 | c.449G= (p.Gly150=) c.731G= (p.Gly244=) | |
3 | g.128486149C>G | CA354406730 | GATA2 | c.449G>C (p.Gly150Ala) c.731G>C (p.Gly244Ala) | |
3 | g.128486149C>T | CA354406731 | GATA2 | c.449G>A (p.Gly150Glu) c.731G>A (p.Gly244Glu) | ClinVar |
3 | g.128486152_128486153dup | CA2838139410 | GATA2 | c.448_449dup (p.Gly151GlufsTer?) c.730_731dup (p.Gly245GlufsTer?) c.448_449dup (p.Gly150=) | |
3 | g.128486153del | CA645523650 | GATA2 | c.449del (p.Gly150GlufsTer?) c.731del (p.Gly244GlufsTer?) c.449del (p.Gly150=) | gnomAD v4 COSMIC |
3 | g.128486150C>A | CA354406732 | GATA2 | c.448G>T (p.Gly150Ter) c.730G>T (p.Gly244Ter) | |
3 | g.128486150C= | CA1400719423 | GATA2 | c.448G= (p.Gly150=) c.730G= (p.Gly244=) | |
3 | g.128486150C>G | CA354406733 | GATA2 | c.448G>C (p.Gly150Arg) c.730G>C (p.Gly244Arg) | |
3 | g.128486150C>T | CA354406734 | GATA2 | c.448G>A (p.Gly150Arg) c.730G>A (p.Gly244Arg) | ClinVar dbSNP |
3 | g.128486151C>A | CA435763890 | GATA2 | c.447G>T (p.Gly149=) c.729G>T (p.Gly243=) | |
3 | g.128486151C>G | CA435763891 | GATA2 | c.447G>C (p.Gly149=) c.729G>C (p.Gly243=) | ClinVar dbSNP |
3 | g.128486151C>T | CA435763892 | GATA2 | c.447G>A (p.Gly149=) c.729G>A (p.Gly243=) | gnomAD v4 |
3 | g.128486152C>A | CA354406735 | GATA2 | c.446G>T (p.Gly149Val) c.728G>T (p.Gly243Val) | gnomAD v4 |
3 | g.128486152C= | CA1400719424 | GATA2 | c.446G= (p.Gly149=) c.728G= (p.Gly243=) | |
3 | g.128486152C>G | CA354406736 | GATA2 | c.446G>C (p.Gly149Ala) c.728G>C (p.Gly243Ala) | ClinVar dbSNP |
3 | g.128486152C>T | CA354406737 | GATA2 | c.446G>A (p.Gly149Glu) c.728G>A (p.Gly243Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486153C>A | CA354406739 | GATA2 | c.445G>T (p.Gly149Trp) c.727G>T (p.Gly243Trp) | gnomAD v4 |
3 | g.128486153C= | CA1400719425 | GATA2 | c.445G= (p.Gly149=) c.727G= (p.Gly243=) | |
3 | g.128486153C>G | CA354406738 | GATA2 | c.445G>C (p.Gly149Arg) c.727G>C (p.Gly243Arg) | gnomAD v4 |
3 | g.128486153C>T | CA2600028 | GATA2 | c.445G>A (p.Gly149Arg) c.727G>A (p.Gly243Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486154G>A | CA435763896 | GATA2 | c.444C>T (p.Ser148=) c.726C>T (p.Ser242=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486154G>C | CA354406740 | GATA2 | c.444C>G (p.Ser148Arg) c.726C>G (p.Ser242Arg) | ClinVar |
3 | g.128486154G= | CA1400719426 | GATA2 | c.444C= (p.Ser148=) c.726C= (p.Ser242=) | |
3 | g.128486154G>T | CA354406741 | GATA2 | c.444C>A (p.Ser148Arg) c.726C>A (p.Ser242Arg) | gnomAD v4 |
3 | g.128486155C>A | CA354406742 | GATA2 | c.443G>T (p.Ser148Ile) c.725G>T (p.Ser242Ile) | |
3 | g.128486155C>G | CA354406743 | GATA2 | c.443G>C (p.Ser148Thr) c.725G>C (p.Ser242Thr) | |
3 | g.128486155C>T | CA354406744 | GATA2 | c.443G>A (p.Ser148Asn) c.725G>A (p.Ser242Asn) | ClinVar gnomAD v4 |
3 | g.128486156T>A | CA354406745 | GATA2 | c.442A>T (p.Ser148Cys) c.724A>T (p.Ser242Cys) | |
3 | g.128486156T>C | CA354406746 | GATA2 | c.442A>G (p.Ser148Gly) c.724A>G (p.Ser242Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486156T>G | CA354406747 | GATA2 | c.442A>C (p.Ser148Arg) c.724A>C (p.Ser242Arg) | |
3 | g.128486156T= | CA1400719427 | GATA2 | c.442A= (p.Ser148=) c.724A= (p.Ser242=) | |
3 | g.128486157C>A | CA435763900 | GATA2 | c.441G>T (p.Gly147=) c.723G>T (p.Gly241=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486157C= | CA1400719428 | GATA2 | c.441G= (p.Gly147=) c.723G= (p.Gly241=) | |
3 | g.128486157C>G | CA435763901 | GATA2 | c.441G>C (p.Gly147=) c.723G>C (p.Gly241=) | dbSNP gnomAD v4 |
3 | g.128486157C>T | CA435763902 | GATA2 | c.441G>A (p.Gly147=) c.723G>A (p.Gly241=) | |
3 | g.128486158C>A | CA354406748 | GATA2 | c.440G>T (p.Gly147Val) c.722G>T (p.Gly241Val) | gnomAD v4 |
3 | g.128486158C>G | CA354406749 | GATA2 | c.440G>C (p.Gly147Ala) c.722G>C (p.Gly241Ala) | |
3 | g.128486158C>T | CA354406750 | GATA2 | c.440G>A (p.Gly147Glu) c.722G>A (p.Gly241Glu) | gnomAD v4 |
3 | g.128486159C>A | CA354406753 | GATA2 | c.439G>T (p.Gly147Trp) c.721G>T (p.Gly241Trp) | |
3 | g.128486159C>G | CA354406752 | GATA2 | c.439G>C (p.Gly147Arg) c.721G>C (p.Gly241Arg) | |
3 | g.128486159C>T | CA354406751 | GATA2 | c.439G>A (p.Gly147Arg) c.721G>A (p.Gly241Arg) | ClinVar dbSNP |
3 | g.128486160A>C | CA435763905 | GATA2 | c.438T>G (p.Gly146=) c.720T>G (p.Gly240=) | gnomAD v4 |
3 | g.128486160A>G | CA435763906 | GATA2 | c.438T>C (p.Gly146=) c.720T>C (p.Gly240=) | |
3 | g.128486160A>T | CA435763907 | GATA2 | c.438T>A (p.Gly146=) c.720T>A (p.Gly240=) | |
3 | g.128486161C>A | CA2600029 | GATA2 | c.437G>T (p.Gly146Val) c.719G>T (p.Gly240Val) | ClinVar dbSNP ExAC gnomAD v4 |
3 | g.128486161C= | CA1400719429 | GATA2 | c.437G= (p.Gly146=) c.719G= (p.Gly240=) | |
3 | g.128486161C>G | CA354406756 | GATA2 | c.437G>C (p.Gly146Ala) c.719G>C (p.Gly240Ala) | gnomAD v4 |
3 | g.128486161C>T | CA354406758 | GATA2 | c.437G>A (p.Gly146Asp) c.719G>A (p.Gly240Asp) | |
3 | g.128486165dup | CA2499216467 | GATA2 | c.437dup (p.Gly147TrpfsTer?) c.719dup (p.Gly241TrpfsTer?) | ClinVar dbSNP |
3 | g.128486165del | CA1139532786 | GATA2 | c.437del (p.Gly146ValfsTer?) c.719del (p.Gly240ValfsTer?) | ClinVar dbSNP |
3 | g.128486162C>A | CA354406759 | GATA2 | c.436G>T (p.Gly146Cys) c.718G>T (p.Gly240Cys) | |
3 | g.128486162C= | CA1400719430 | GATA2 | c.436G= (p.Gly146=) c.718G= (p.Gly240=) | |
3 | g.128486162C>G | CA354406761 | GATA2 | c.436G>C (p.Gly146Arg) c.718G>C (p.Gly240Arg) | |
3 | g.128486162C>T | CA2600030 | GATA2 | c.436G>A (p.Gly146Ser) c.718G>A (p.Gly240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486163C>A | CA435763911 | GATA2 | c.435G>T (p.Gly145=) c.717G>T (p.Gly239=) | |
3 | g.128486163C>G | CA435763912 | GATA2 | c.435G>C (p.Gly145=) c.717G>C (p.Gly239=) | |
3 | g.128486163C>T | CA435763913 | GATA2 | c.435G>A (p.Gly145=) c.717G>A (p.Gly239=) | |
3 | g.128486164C>A | CA354406768 | GATA2 | c.434G>T (p.Gly145Val) c.716G>T (p.Gly239Val) | dbSNP |
3 | g.128486164C>G | CA354406766 | GATA2 | c.434G>C (p.Gly145Ala) c.716G>C (p.Gly239Ala) | |
3 | g.128486164C>T | CA354406764 | GATA2 | c.434G>A (p.Gly145Glu) c.716G>A (p.Gly239Glu) | |
3 | g.128486165C>A | CA354406769 | GATA2 | c.433G>T (p.Gly145Trp) c.715G>T (p.Gly239Trp) | gnomAD v4 |
3 | g.128486165C>G | CA354406771 | GATA2 | c.433G>C (p.Gly145Arg) c.715G>C (p.Gly239Arg) | ClinVar |
3 | g.128486165C>T | CA354406773 | GATA2 | c.433G>A (p.Gly145Arg) c.715G>A (p.Gly239Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.128486166A= | CA1400719431 | GATA2 | c.432T= (p.Ala144=) c.714T= (p.Ala238=) | |
3 | g.128486166A>C | CA435763914 | GATA2 | c.432T>G (p.Ala144=) c.714T>G (p.Ala238=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486166A>G | CA435763915 | GATA2 | c.432T>C (p.Ala144=) c.714T>C (p.Ala238=) | |
3 | g.128486166A>T | CA435763916 | GATA2 | c.432T>A (p.Ala144=) c.714T>A (p.Ala238=) | |
3 | g.128486166_128486167del | CA2838139403 | GATA2 | c.431_432del (p.Ala144GlyfsTer?) c.713_714del (p.Ala238GlyfsTer?) | |
3 | g.128486166_128486167delinsCC | CA2838031901 | GATA2 | c.431_432delinsGG (p.Ala144Gly) c.713_714delinsGG (p.Ala238Gly) | |
3 | g.128486167G>A | CA354406775 | GATA2 | c.431C>T (p.Ala144Val) c.713C>T (p.Ala238Val) | gnomAD v4 |
3 | g.128486167G>C | CA354406777 | GATA2 | c.431C>G (p.Ala144Gly) c.713C>G (p.Ala238Gly) | ClinVar dbSNP |
3 | g.128486167G= | CA1400719432 | GATA2 | c.431C= (p.Ala144=) c.713C= (p.Ala238=) | |
3 | g.128486167G>T | CA2600031 | GATA2 | c.431C>A (p.Ala144Asp) c.713C>A (p.Ala238Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486168C>A | CA2600032 | GATA2 | c.430G>T (p.Ala144Ser) c.712G>T (p.Ala238Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.128486168C= | CA1400719433 | GATA2 | c.430G= (p.Ala144=) c.712G= (p.Ala238=) | |
3 | g.128486168C>G | CA354406781 | GATA2 | c.430G>C (p.Ala144Pro) c.712G>C (p.Ala238Pro) | |
3 | g.128486168C>T | CA354406780 | GATA2 | c.430G>A (p.Ala144Thr) c.712G>A (p.Ala238Thr) | ClinVar |
3 | g.128486169C>A | CA435763920 | GATA2 | c.429G>T (p.Gly143=) c.711G>T (p.Gly237=) | gnomAD v4 |
3 | g.128486169C= | CA1400719434 | GATA2 | c.429G= (p.Gly143=) c.711G= (p.Gly237=) | |
3 | g.128486169C>G | CA435763921 | GATA2 | c.429G>C (p.Gly143=) c.711G>C (p.Gly237=) | |
3 | g.128486169C>T | CA435763923 | GATA2 | c.429G>A (p.Gly143=) c.711G>A (p.Gly237=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486170C>A | CA354406784 | GATA2 | c.428G>T (p.Gly143Val) c.710G>T (p.Gly237Val) | |
3 | g.128486170C= | CA1400719435 | GATA2 | c.428G= (p.Gly143=) c.710G= (p.Gly237=) | |
3 | g.128486170C>G | CA354406785 | GATA2 | c.428G>C (p.Gly143Ala) c.710G>C (p.Gly237Ala) | |
3 | g.128486170C>T | CA354406786 | GATA2 | c.428G>A (p.Gly143Glu) c.710G>A (p.Gly237Glu) | dbSNP |
3 | g.128486171C>A | CA354406788 | GATA2 | c.427G>T (p.Gly143Trp) c.709G>T (p.Gly237Trp) | |
3 | g.128486171C>G | CA354406790 | GATA2 | c.427G>C (p.Gly143Arg) c.709G>C (p.Gly237Arg) | gnomAD v4 |
3 | g.128486171C>T | CA354406792 | GATA2 | c.427G>A (p.Gly143Arg) c.709G>A (p.Gly237Arg) | |
3 | g.128486172T>A | CA435763926 | GATA2 | c.426A>T (p.Pro142=) c.708A>T (p.Pro236=) | |
3 | g.128486172T>C | CA435763927 | GATA2 | c.426A>G (p.Pro142=) c.708A>G (p.Pro236=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486172T>G | CA435763928 | GATA2 | c.426A>C (p.Pro142=) c.708A>C (p.Pro236=) | |
3 | g.128486172T= | CA1400719436 | GATA2 | c.426A= (p.Pro142=) c.708A= (p.Pro236=) | |
3 | g.128486173G>A | CA354406794 | GATA2 | c.425C>T (p.Pro142Leu) c.707C>T (p.Pro236Leu) | ClinVar dbSNP gnomAD v2 |
3 | g.128486173G>C | CA354406795 | GATA2 | c.425C>G (p.Pro142Arg) c.707C>G (p.Pro236Arg) | |
3 | g.128486173G= | CA1400719437 | GATA2 | c.425C= (p.Pro142=) c.707C= (p.Pro236=) | |
3 | g.128486173G>T | CA354406796 | GATA2 | c.425C>A (p.Pro142Gln) c.707C>A (p.Pro236Gln) | |
3 | g.128486174G>A | CA354406798 | GATA2 | c.424C>T (p.Pro142Ser) c.706C>T (p.Pro236Ser) | ClinVar dbSNP |
3 | g.128486174G>C | CA354406800 | GATA2 | c.424C>G (p.Pro142Ala) c.706C>G (p.Pro236Ala) | ClinVar dbSNP |
3 | g.128486174G= | CA1400719438 | GATA2 | c.424C= (p.Pro142=) c.706C= (p.Pro236=) | |
3 | g.128486174G>T | CA354406801 | GATA2 | c.424C>A (p.Pro142Thr) c.706C>A (p.Pro236Thr) | |
3 | g.128486175G>A | CA2600033 | GATA2 | c.423C>T (p.Tyr141=) c.705C>T (p.Tyr235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486175G>C | CA354406805 | GATA2 | c.423C>G (p.Tyr141Ter) c.705C>G (p.Tyr235Ter) | ClinVar |
3 | g.128486175G= | CA1400719439 | GATA2 | c.423C= (p.Tyr141=) c.705C= (p.Tyr235=) | |
3 | g.128486175G>T | CA354406803 | GATA2 | c.423C>A (p.Tyr141Ter) c.705C>A (p.Tyr235Ter) | ClinVar dbSNP |
3 | g.128486176T>A | CA354406808 | GATA2 | c.422A>T (p.Tyr141Phe) c.704A>T (p.Tyr235Phe) | |
3 | g.128486176T>C | CA354406810 | GATA2 | c.422A>G (p.Tyr141Cys) c.704A>G (p.Tyr235Cys) | |
3 | g.128486176T>G | CA354406811 | GATA2 | c.422A>C (p.Tyr141Ser) c.704A>C (p.Tyr235Ser) | |
3 | g.128486177A>C | CA354406813 | GATA2 | c.421T>G (p.Tyr141Asp) c.703T>G (p.Tyr235Asp) | |
3 | g.128486177A>G | CA354406815 | GATA2 | c.421T>C (p.Tyr141His) c.703T>C (p.Tyr235His) | ClinVar |
3 | g.128486177A>T | CA354406817 | GATA2 | c.421T>A (p.Tyr141Asn) c.703T>A (p.Tyr235Asn) | |
3 | g.128486178C>A | CA435763933 | GATA2 | c.420G>T (p.Val140=) c.702G>T (p.Val234=) | gnomAD v4 |
3 | g.128486178C>G | CA435763935 | GATA2 | c.420G>C (p.Val140=) c.702G>C (p.Val234=) | |
3 | g.128486178C>T | CA435763937 | GATA2 | c.420G>A (p.Val140=) c.702G>A (p.Val234=) | ClinVar dbSNP |
3 | g.128486179A= | CA1400719440 | GATA2 | c.419T= (p.Val140=) c.701T= (p.Val234=) | |
3 | g.128486179A>C | CA354406820 | GATA2 | c.419T>G (p.Val140Gly) c.701T>G (p.Val234Gly) | gnomAD v4 |
3 | g.128486179A>G | CA354406822 | GATA2 | c.419T>C (p.Val140Ala) c.701T>C (p.Val234Ala) | ClinVar dbSNP |
3 | g.128486179A>T | CA354406825 | GATA2 | c.419T>A (p.Val140Glu) c.701T>A (p.Val234Glu) | |
3 | g.128486180C>A | CA354406827 | GATA2 | c.418G>T (p.Val140Leu) c.700G>T (p.Val234Leu) | |
3 | g.128486180C>G | CA354406830 | GATA2 | c.418G>C (p.Val140Leu) c.700G>C (p.Val234Leu) | |
3 | g.128486180C>T | CA354406832 | GATA2 | c.418G>A (p.Val140Met) c.700G>A (p.Val234Met) | ClinVar |
3 | g.128486181A= | CA1400719441 | GATA2 | c.417T= (p.Ser139=) c.699T= (p.Ser233=) | |
3 | g.128486181A>C | CA435763939 | GATA2 | c.417T>G (p.Ser139=) c.699T>G (p.Ser233=) | |
3 | g.128486181A>G | CA435763940 | GATA2 | c.417T>C (p.Ser139=) c.699T>C (p.Ser233=) | ClinVar dbSNP |
3 | g.128486181A>T | CA435763942 | GATA2 | c.417T>A (p.Ser139=) c.699T>A (p.Ser233=) | |
3 | g.128486181dup | CA1139532785 | GATA2 | c.417dup (p.Val140CysfsTer?) c.699dup (p.Val234CysfsTer?) | ClinVar dbSNP |
3 | g.128486185_128486186del | CA645523651 | GATA2 | c.416_417del (p.Ser139CysfsTer?) c.698_699del (p.Ser233CysfsTer?) | ClinVar dbSNP COSMIC |
3 | g.128486183_128486186del | CA1139532784 | GATA2 | c.414_417del (p.Ser139CysfsTer?) c.696_699del (p.Ser233CysfsTer?) | ClinVar dbSNP |
3 | g.128486182G>A | CA354406840 | GATA2 | c.416C>T (p.Ser139Phe) c.698C>T (p.Ser233Phe) | gnomAD v4 |
3 | g.128486182G>C | CA354406839 | GATA2 | c.416C>G (p.Ser139Cys) c.698C>G (p.Ser233Cys) | |
3 | g.128486182G>T | CA354406836 | GATA2 | c.416C>A (p.Ser139Tyr) c.698C>A (p.Ser233Tyr) | |
3 | g.128486183A>C | CA354406841 | GATA2 | c.415T>G (p.Ser139Ala) c.697T>G (p.Ser233Ala) | |
3 | g.128486183A>G | CA354406845 | GATA2 | c.415T>C (p.Ser139Pro) c.697T>C (p.Ser233Pro) | ClinVar gnomAD v4 |
3 | g.128486183A>T | CA354406847 | GATA2 | c.415T>A (p.Ser139Thr) c.697T>A (p.Ser233Thr) | |
3 | g.128486184G>A | CA435763945 | GATA2 | c.414C>T (p.Leu138=) c.696C>T (p.Leu232=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486184G>C | CA435763947 | GATA2 | c.414C>G (p.Leu138=) c.696C>G (p.Leu232=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486184G= | CA1400719442 | GATA2 | c.414C= (p.Leu138=) c.696C= (p.Leu232=) | |
3 | g.128486184G>T | CA435763948 | GATA2 | c.414C>A (p.Leu138=) c.696C>A (p.Leu232=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486185A= | CA1400719443 | GATA2 | c.413T= (p.Leu138=) c.695T= (p.Leu232=) | |
3 | g.128486185A>C | CA354406848 | GATA2 | c.413T>G (p.Leu138Arg) c.695T>G (p.Leu232Arg) | |
3 | g.128486185A>G | CA2600034 | GATA2 | c.413T>C (p.Leu138Pro) c.695T>C (p.Leu232Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486185A>T | CA354406852 | GATA2 | c.413T>A (p.Leu138His) c.695T>A (p.Leu232His) | gnomAD v4 |
3 | g.128486186G>A | CA354406854 | GATA2 | c.412C>T (p.Leu138Phe) c.694C>T (p.Leu232Phe) | |
3 | g.128486186G>C | CA354406856 | GATA2 | c.412C>G (p.Leu138Val) c.694C>G (p.Leu232Val) | |
3 | g.128486186G>T | CA354406858 | GATA2 | c.412C>A (p.Leu138Ile) c.694C>A (p.Leu232Ile) | gnomAD v4 |
3 | g.128486187T>A | CA435763949 | GATA2 | c.411A>T (p.Pro137=) c.693A>T (p.Pro231=) | |
3 | g.128486187T>C | CA435763950 | GATA2 | c.411A>G (p.Pro137=) c.693A>G (p.Pro231=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486187T>G | CA435763951 | GATA2 | c.411A>C (p.Pro137=) c.693A>C (p.Pro231=) | |
3 | g.128486187T= | CA1400719444 | GATA2 | c.411A= (p.Pro137=) c.693A= (p.Pro231=) | |
3 | g.128486187_128486196delinsTGGGCCTCCA | CA1400719445 | GATA2 | c.402_411delinsTGGAGGCCCA (p.Pro134=) c.684_693delinsTGGAGGCCCA (p.Pro228=) | |
3 | g.128486188G>A | CA354406861 | GATA2 | c.410C>T (p.Pro137Leu) c.692C>T (p.Pro231Leu) | gnomAD v4 |
3 | g.128486188G>C | CA354406863 | GATA2 | c.410C>G (p.Pro137Arg) c.692C>G (p.Pro231Arg) | |
3 | g.128486188G>T | CA354406866 | GATA2 | c.410C>A (p.Pro137Gln) c.692C>A (p.Pro231Gln) | |
3 | g.128486188_128486193delinsGGGCCT | CA1400719447 | GATA2 | c.405_410delinsAGGCCC (p.Gly135=) c.687_692delinsAGGCCC (p.Gly229=) | |
3 | g.128486198_128486206dup | CA2667541073 | GATA2 | c.402_410dup (p.Pro137_Leu138insGlyGlyPro) c.684_692dup (p.Pro231_Leu232insGlyGlyPro) | gnomAD v4 |
3 | g.128486198_128486206del | CA1400719446 | GATA2 | c.402_410del (p.Gly135_Pro137del) c.684_692del (p.Gly229_Pro231del) | ClinVar dbSNP gnomAD v4 |
3 | g.128486189G>A | CA83372042 | GATA2 | c.409C>T (p.Pro137Ser) c.691C>T (p.Pro231Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486189G>C | CA354406870 | GATA2 | c.409C>G (p.Pro137Ala) c.691C>G (p.Pro231Ala) | |
3 | g.128486189G= | CA1400719448 | GATA2 | c.409C= (p.Pro137=) c.691C= (p.Pro231=) | |
3 | g.128486189G>T | CA354406872 | GATA2 | c.409C>A (p.Pro137Thr) c.691C>A (p.Pro231Thr) | |
3 | g.128486189_128486193delinsTAC | CA915941570 | GATA2 | c.405_409delinsGTA (p.Gly136TyrfsTer?) c.687_691delinsGTA (p.Gly230TyrfsTer?) | ClinVar dbSNP |
3 | g.128486190G>A | CA435763952 | GATA2 | c.408C>T (p.Gly136=) c.690C>T (p.Gly230=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486190G>C | CA435763953 | GATA2 | c.408C>G (p.Gly136=) c.690C>G (p.Gly230=) | |
3 | g.128486190G= | CA1400719449 | GATA2 | c.408C= (p.Gly136=) c.690C= (p.Gly230=) | |
3 | g.128486190G>T | CA435763954 | GATA2 | c.408C>A (p.Gly136=) c.690C>A (p.Gly230=) | gnomAD v4 |
3 | g.128486191C>A | CA354406882 | GATA2 | c.407G>T (p.Gly136Val) c.689G>T (p.Gly230Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486191C= | CA1400719450 | GATA2 | c.407G= (p.Gly136=) c.689G= (p.Gly230=) | |
3 | g.128486191C>G | CA354406885 | GATA2 | c.407G>C (p.Gly136Ala) c.689G>C (p.Gly230Ala) | |
3 | g.128486191C>T | CA354406883 | GATA2 | c.407G>A (p.Gly136Asp) c.689G>A (p.Gly230Asp) | |
3 | g.128486192C>A | CA2600035 | GATA2 | c.406G>T (p.Gly136Cys) c.688G>T (p.Gly230Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486192C= | CA1400719451 | GATA2 | c.406G= (p.Gly136=) c.688G= (p.Gly230=) | |
3 | g.128486192C>G | CA354406892 | GATA2 | c.406G>C (p.Gly136Arg) c.688G>C (p.Gly230Arg) | |
3 | g.128486192C>T | CA354406891 | GATA2 | c.406G>A (p.Gly136Ser) c.688G>A (p.Gly230Ser) | gnomAD v4 |
3 | g.128486193T>A | CA435763957 | GATA2 | c.405A>T (p.Gly135=) c.687A>T (p.Gly229=) | |
3 | g.128486193T>C | CA435763958 | GATA2 | c.405A>G (p.Gly135=) c.687A>G (p.Gly229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.128486193T>G | CA435763959 | GATA2 | c.405A>C (p.Gly135=) c.687A>C (p.Gly229=) | ClinVar |
3 | g.128486193T= | CA1400719452 | GATA2 | c.405A= (p.Gly135=) c.687A= (p.Gly229=) | |
3 | g.128486194C>A | CA354406893 | GATA2 | c.404G>T (p.Gly135Val) c.686G>T (p.Gly229Val) | |
3 | g.128486194C>G | CA354406896 | GATA2 | c.404G>C (p.Gly135Ala) c.686G>C (p.Gly229Ala) | |
3 | g.128486194C>T | CA354406895 | GATA2 | c.404G>A (p.Gly135Glu) c.686G>A (p.Gly229Glu) | gnomAD v4 |
3 | g.128486195dup | CA1139532783 | GATA2 | c.404dup (p.Gly136ArgfsTer?) c.686dup (p.Gly230ArgfsTer?) | ClinVar dbSNP |
3 | g.128486195del | CA2667541074 | GATA2 | c.404del (p.Gly135GlufsTer?) c.686del (p.Gly229GlufsTer?) | gnomAD v4 |
3 | g.128486195C>A | CA354406898 | GATA2 | c.403G>T (p.Gly135Ter) c.685G>T (p.Gly229Ter) | |
3 | g.128486195C= | CA1400719453 | GATA2 | c.403G= (p.Gly135=) c.685G= (p.Gly229=) | |
3 | g.128486195C>G | CA354406901 | GATA2 | c.403G>C (p.Gly135Arg) c.685G>C (p.Gly229Arg) | |
3 | g.128486195C>T | CA354406904 | GATA2 | c.403G>A (p.Gly135Arg) c.685G>A (p.Gly229Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.128486196A= | CA1400719454 | GATA2 | c.402T= (p.Pro134=) c.684T= (p.Pro228=) | |
3 | g.128486196A>C | CA435763963 | GATA2 | c.402T>G (p.Pro134=) c.684T>G (p.Pro228=) | |
3 | g.128486196A>G | CA435763964 | GATA2 | c.402T>C (p.Pro134=) c.684T>C (p.Pro228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486196A>T | CA435763965 | GATA2 | c.402T>A (p.Pro134=) c.684T>A (p.Pro228=) | |
3 | g.128486197G>A | CA354406907 | GATA2 | c.401C>T (p.Pro134Leu) c.683C>T (p.Pro228Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.128486197G>C | CA354406909 | GATA2 | c.401C>G (p.Pro134Arg) c.683C>G (p.Pro228Arg) | |
3 | g.128486197G= | CA1400719455 | GATA2 | c.401C= (p.Pro134=) c.683C= (p.Pro228=) | |
3 | g.128486197G>T | CA354406911 | GATA2 | c.401C>A (p.Pro134His) c.683C>A (p.Pro228His) | |
3 | g.128486198G>A | CA354406914 | GATA2 | c.400C>T (p.Pro134Ser) c.682C>T (p.Pro228Ser) | dbSNP |
3 | g.128486198G>C | CA354406916 | GATA2 | c.400C>G (p.Pro134Ala) c.682C>G (p.Pro228Ala) | |
3 | g.128486198G= | CA1400719456 | GATA2 | c.400C= (p.Pro134=) c.682C= (p.Pro228=) | |
3 | g.128486198G>T | CA354406919 | GATA2 | c.400C>A (p.Pro134Thr) c.682C>A (p.Pro228Thr) | ClinVar dbSNP |
3 | g.128486199G>A | CA435763969 | GATA2 | c.399C>T (p.Gly133=) c.681C>T (p.Gly227=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.128486199G>C | CA435763970 | GATA2 | c.399C>G (p.Gly133=) c.681C>G (p.Gly227=) | |
3 | g.128486199G= | CA1400719457 | GATA2 | c.399C= (p.Gly133=) c.681C= (p.Gly227=) | |
3 | g.128486199G>T | CA435763971 | GATA2 | c.399C>A (p.Gly133=) c.681C>A (p.Gly227=) | |
3 | g.128486200C>A | CA354406922 | GATA2 | c.398G>T (p.Gly133Val) c.680G>T (p.Gly227Val) | ClinVar dbSNP |
3 | g.128486200C= | CA1400719458 | GATA2 | c.398G= (p.Gly133=) c.680G= (p.Gly227=) | |
3 | g.128486200C>G | CA354406925 | GATA2 | c.398G>C (p.Gly133Ala) c.680G>C (p.Gly227Ala) | |
3 | g.128486200C>T | CA354406926 | GATA2 | c.398G>A (p.Gly133Asp) c.680G>A (p.Gly227Asp) | |
3 | g.128486201C>A | CA354406929 | GATA2 | c.397G>T (p.Gly133Cys) c.679G>T (p.Gly227Cys) | |
3 | g.128486201C= | CA1400719459 | GATA2 | c.397G= (p.Gly133=) c.679G= (p.Gly227=) | |
3 | g.128486201C>G | CA354406933 | GATA2 | c.397G>C (p.Gly133Arg) c.679G>C (p.Gly227Arg) | ClinVar |
3 | g.128486201C>T | CA354406932 | GATA2 | c.397G>A (p.Gly133Ser) c.679G>A (p.Gly227Ser) | ClinVar dbSNP gnomAD v2 |
3 | g.128486202T>A | CA435763973 | GATA2 | c.396A>T (p.Gly132=) c.678A>T (p.Gly226=) | |
3 | g.128486202T>C | CA435763974 | GATA2 | c.396A>G (p.Gly132=) c.678A>G (p.Gly226=) | |
3 | g.128486202T>G | CA435763975 | GATA2 | c.396A>C (p.Gly132=) c.678A>C (p.Gly226=) | |
3 | g.128486203C>A | CA354406936 | GATA2 | c.395G>T (p.Gly132Val) c.677G>T (p.Gly226Val) | |
3 | g.128486203C>G | CA354406937 | GATA2 | c.395G>C (p.Gly132Ala) c.677G>C (p.Gly226Ala) | |
3 | g.128486203C>T | CA354406940 | GATA2 | c.395G>A (p.Gly132Glu) c.677G>A (p.Gly226Glu) | |
3 | g.128486204C>A | CA354406943 | GATA2 | c.394G>T (p.Gly132Ter) c.676G>T (p.Gly226Ter) | |
3 | g.128486204C>G | CA354406946 | GATA2 | c.394G>C (p.Gly132Arg) c.676G>C (p.Gly226Arg) | |
3 | g.128486204C>T | CA354406947 | GATA2 | c.394G>A (p.Gly132Arg) c.676G>A (p.Gly226Arg) | gnomAD v4 |
3 | g.128486205A>C | CA435763978 | GATA2 | c.393T>G (p.Ala131=) c.675T>G (p.Ala225=) | |
3 | g.128486205A>G | CA435763979 | GATA2 | c.393T>C (p.Ala131=) c.675T>C (p.Ala225=) | |
3 | g.128486205A>T | CA435763980 | GATA2 | c.393T>A (p.Ala131=) c.675T>A (p.Ala225=) | |
3 | g.128486206G>A | CA354406950 | GATA2 | c.392C>T (p.Ala131Val) c.674C>T (p.Ala225Val) | |
3 | g.128486206G>C | CA354406953 | GATA2 | c.392C>G (p.Ala131Gly) c.674C>G (p.Ala225Gly) | |
3 | g.128486206G>T | CA354406956 | GATA2 | c.392C>A (p.Ala131Asp) c.674C>A (p.Ala225Asp) | |
3 | g.128486207C>A | CA354406965 | GATA2 | c.391G>T (p.Ala131Ser) c.673G>T (p.Ala225Ser) | |
3 | g.128486207C>G | CA354406962 | GATA2 | c.391G>C (p.Ala131Pro) c.673G>C (p.Ala225Pro) | |
3 | g.128486207C>T | CA354406960 | GATA2 | c.391G>A (p.Ala131Thr) c.673G>A (p.Ala225Thr) | ClinVar gnomAD v4 |